Identification of a novel PLS1 heterozygous variant causing autosomal dominant nonsyndromic hearing loss

Key Points

• The research aims to identify genetic variants associated with autosomal dominant nonsyndromic hearing loss.
• Conducted clinical exome sequencing on patients with congenital non-syndromic deafness.
• Analyzed variant data to identify potential pathogenic mutations.
• Identified a novel heterozygous variant in the PLS1 gene associated with hearing loss.
• Found clinical significance in at least one deaf patient with the variant.